首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
congenital absence of salivary gland相关文献:
Congenital absence of salivary and lacrimal glands accompanied by growth and development retardation.
Gok F, Mutlu FM, Sari E, Demirkaya E, Altinsoy HI, Bernd W.
J Pediatr Ophthalmol Strabismus. 2010 May 21;47 Online:e1-3. doi: 10.3928/01913913-20100324-07.
PMID:21214158
Bony Congenital Nasolacrimal Duct Obstruction: A Novel Phenotype of Aplasia of Lacrimal and Major Salivary Glands.
Feng ZX, Liu W, Li Z, Cui Y, Li L, Zhang C.
Ophthalmology. 2024 May;131(5):589-594. doi: 10.1016/j.ophtha.2023.12.003. Epub 2023 Dec 9.
PMID:38081329
Fgf10: a paracrine-signaling molecule in development, disease, and regenerative medicine.
Itoh N, Ohta H.
Curr Mol Med. 2014 May;14(4):504-9. doi: 10.2174/1566524014666140414204829.
PMID:24730525
FGF signalling in craniofacial development and developmental disorders.
Nie X, Luukko K, Kettunen P.
Oral Dis. 2006 Mar;12(2):102-11. doi: 10.1111/j.1601-0825.2005.01176.x.
PMID:16476029
Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.
Freund O, Elsana B, Agam N, Jean MM, Safran A, Poleg T, Roguin N, Gradstein L, Tsumi E, Birk OS.
Am J Med Genet A. 2023 Nov;191(11):2768-2774. doi: 10.1002/ajmg.a.63359. Epub 2023 Aug 24.
PMID:37615310
New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study.
Rodrigo MJ, Idoipe M, Izquierdo S, Satue M, Mateo A, Sanchez A, Garcia-Martin E, Pablo L.
Ophthalmic Genet. 2018 Jan-Feb;39(1):125-128. doi: 10.1080/13816810.2017.1381976. Epub 2017 Oct 20.
PMID:29053399
Complete agenesis of major salivary glands.
Berta E, Bettega G, Jouk PS, Billy G, Nugues F, Morand B.
Int J Pediatr Otorhinolaryngol. 2013 Oct;77(10):1782-5. doi: 10.1016/j.ijporl.2013.07.025. Epub 2013 Aug 28.
PMID:23993206
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P.
Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10.
PMID:30639323
Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands.
Seymen F, Koruyucu M, Toptanci IR, Balsak S, Dedeoglu S, Celepkolu T, Shin TJ, Hyun HK, Kim YJ, Kim JW.
Clin Oral Investig. 2017 Jan;21(1):167-172. doi: 10.1007/s00784-016-1771-x. Epub 2016 Mar 9.
PMID:26955834
Case report: aplasia of the lacrimal and major salivary glands (ALSG).
Chapman DB, Shashi V, Kirse DJ.
Int J Pediatr Otorhinolaryngol. 2009 Jun;73(6):899-901. doi: 10.1016/j.ijporl.2009.03.004. Epub 2009 Apr 18.
PMID:19376597
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3